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A polygenic two-hit hypothesis for prostate cancer. J Natl Cancer Inst. 2023 Apr 11; 115(4):468-472.
Houlahan KE, Livingstone J, Fox NS, Kurganovs N, Zhu H, Sietsma Penington J, Jung CH, Yamaguchi TN, Heisler LE, Jovelin R, Costello AJ, Pope BJ, Kishan AU, Corcoran NM, Bristow RG, Waszak SM, Weischenfeldt J, He HH, Hung RJ, Hovens CM, Boutros PC. PMID: 36610996; PMCID: PMC10086625.
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PubMed Mentions:
1 Fields:
Translation:
Humans
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Reply to Li and colleagues. J Natl Cancer Inst. 2023 Apr 02.
Kratz CP, Smirnov D, Autry R, J?ger N, Waszak SM, Gro?hennig A, Berutti R, Wendorff M, Hainaut P, Pfister SM, Prokisch H, Ripperger T, Malkin D. PMID: 37004196.
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PubMed Mentions: Fields:
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Author Correction: Pan-cancer analysis of whole genomes identifies driver rearrangements promoted by LINE-1 retrotransposition. Nat Genet. 2023 Mar 21.
Rodriguez-Martin B, Alvarez EG, Baez-Ortega A, Zamora J, Supek F, Demeulemeester J, Santamarina M, Ju YS, Temes J, Garcia-Souto D, Detering H, Li Y, Rodriguez-Castro J, Dueso-Barroso A, Bruzos AL, Dentro SC, Blanco MG, Contino G, Ardeljan D, Tojo M, Roberts ND, Zumalave S, Edwards PA, Weischenfeldt J, Puiggr?s M, Chong Z, Chen K, Lee EA, Wala JA, Raine KM, Butler A, Waszak SM, Navarro FCP, Schumacher SE, Monlong J, Maura F, Bolli N, Bourque G, Gerstein M, Park PJ, Wedge DC, Beroukhim R, Torrents D, Korbel JO, Martincorena I, Fitzgerald RC, Van Loo P, Kazazian HH, Burns KH, PCAWG Structural Variation Working Group, Campbell PJ, Tubio JMC, PCAWG Consortium. PMID: 36944736.
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PubMed Mentions: Fields:
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Author Correction: Butler enables rapid cloud-based analysis of thousands of human genomes. Nat Biotechnol. 2023 Mar 21.
Yakneen S, Waszak SM, PCAWG Technical Working Group, Gertz M, Korbel JO, PCAWG Consortium. PMID: 36944844.
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PubMed Mentions: Fields:
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Reply to Evans and Woodward. J Natl Cancer Inst. 2023 02 08; 115(2):231-232.
Kratz CP, Smirnov D, Autry R, Jäger N, Waszak SM, Großhennig A, Berutti R, Wendorff M, Hainaut P, Pfister SM, Prokisch H, Ripperger T, Malkin D. PMID: 36495208; PMCID: PMC9905955.
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PubMed Mentions: Fields:
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Therapeutic targeting of prenatal pontine ID1 signaling in diffuse midline glioma. Neuro Oncol. 2023 01 05; 25(1):54-67.
Messinger D, Harris MK, Cummings JR, Thomas C, Yang T, Sweha SR, Woo R, Siddaway R, Burkert M, Stallard S, Qin T, Mullan B, Siada R, Ravindran R, Niculcea M, Dowling AR, Bradin J, Ginn KF, Gener MAH, Dorris K, Vitanza NA, Schmidt SV, Spitzer J, Li J, Filbin MG, Cao X, Castro MG, Lowenstein PR, Mody R, Chinnaiyan A, Desprez PY, McAllister S, Dun MD, Hawkins C, Waszak SM, Venneti S, Koschmann C, Yadav VN. PMID: 35605606; PMCID: PMC9825316.
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PubMed Mentions: Fields:
Translation:
HumansAnimalsCells
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Heterozygous BRCA1 and BRCA2 and Mismatch Repair Gene Pathogenic Variants in Children and Adolescents With Cancer. J Natl Cancer Inst. 2022 11 14; 114(11):1523-1532.
Kratz CP, Smirnov D, Autry R, Jäger N, Waszak SM, Großhennig A, Berutti R, Wendorff M, Hainaut P, Pfister SM, Prokisch H, Ripperger T, Malkin D. PMID: 35980168.
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PubMed Mentions:
4 Fields:
Translation:
HumansCells
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Upfront Biology-Guided Therapy in Diffuse Intrinsic Pontine Glioma: Therapeutic, Molecular, and Biomarker Outcomes from PNOC003. Clin Cancer Res. 2022 09 15; 28(18):3965-3978.
Kline C, Jain P, Kilburn L, Bonner ER, Gupta N, Crawford JR, Banerjee A, Packer RJ, Villanueva-Meyer J, Luks T, Zhang Y, Kambhampati M, Zhang J, Yadavilli S, Zhang B, Gaonkar KS, Rokita JL, Kraya A, Kuhn J, Liang W, Byron S, Berens M, Molinaro A, Prados M, Resnick A, Waszak SM, Nazarian J, Mueller S. PMID: 35852795.
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PubMed Mentions:
3 Fields:
Translation:
Humans
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Imipridones affect tumor bioenergetics and promote cell lineage differentiation in diffuse midline gliomas. Neuro Oncol. 2022 09 01; 24(9):1438-1451.
Przystal JM, Cianciolo Cosentino C, Yadavilli S, Zhang J, Laternser S, Bonner ER, Prasad R, Dawood AA, Lobeto N, Chin Chong W, Biery MC, Myers C, Olson JM, Panditharatna E, Kritzer B, Mourabit S, Vitanza NA, Filbin MG, de Iuliis GN, Dun MD, Koschmann C, Cain JE, Grotzer MA, Waszak SM, Mueller S, Nazarian J. PMID: 35157764; PMCID: PMC9435508.
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PubMed Mentions:
7 Fields:
Translation:
HumansAnimalsCells
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Cancer risk and tumour spectrum in 172 patients with a germline SUFU pathogenic variation: a collaborative study of the SIOPE Host Genome Working Group. J Med Genet. 2022 Jun 29.
Guerrini-Rousseau L, Masliah-Planchon J, Waszak SM, Alhopuro P, Benusiglio PR, Bourdeaut F, Brecht IB, Del Baldo G, Dhanda SK, Garrè ML, Gidding CEM, Hirsch S, Hoarau P, Jorgensen M, Kratz C, Lafay-Cousin L, Mastronuzzi A, Pastorino L, Pfister SM, Schroeder C, Smith MJ, Vahteristo P, Vibert R, Vilain C, Waespe N, Winship IM, Evans DG, Brugieres L. PMID: 35768194; PMCID: PMC9613872.
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PubMed Mentions: Fields:
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Rare Germline Variants Are Associated with Rapid Biochemical Recurrence After Radical Prostate Cancer Treatment: A Pan Prostate Cancer Group Study. Eur Urol. 2022 08; 82(2):201-211.
Burns D, Anokian E, Saunders EJ, Bristow RG, Fraser M, Reimand J, Schlomm T, Sauter G, Brors B, Korbel J, Weischenfeldt J, Waszak SM, Corcoran NM, Jung CH, Pope BJ, Hovens CM, Cancel-Tassin G, Cussenot O, Loda M, Sander C, Hayes VM, Dalsgaard Sorensen K, Lu YJ, Hamdy FC, Foster CS, Gnanapragasam V, Butler A, Lynch AG, Massie CE, CR-UK/Prostate Cancer UK, ICGC, The PPCG, Woodcock DJ, Cooper CS, Wedge DC, Brewer DS, Kote-Jarai Z, Eeles RA. PMID: 35659150.
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Translation:
HumansCells
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A leukemia-protective germline variant mediates chromatin module formation via transcription factor nucleation. Nat Commun. 2022 04 19; 13(1):2042.
Llimos G, Gardeux V, Koch U, Kribelbauer JF, Hafner A, Alpern D, Pezoldt J, Litovchenko M, Russeil J, Dainese R, Moia R, Mahmoud AM, Rossi D, Gaidano G, Plass C, Lutsik P, Gerhauser C, Waszak SM, Boettiger A, Radtke F, Deplancke B. PMID: 35440565; PMCID: PMC9018852.
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PubMed Mentions: Fields:
Translation:
HumansCells
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WHO Classification of Tumours. Central Nervous System Tumours. ELP1-medulloblastoma syndrome. 2022; 6:568.
Stefan M. Pfister, Sebastian M. Waszak. . View Publication.
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Pharmaco-proteogenomic profiling of pediatric diffuse midline glioma to inform future treatment strategies. Oncogene. 2022 01; 41(4):461-475.
Findlay IJ, De Iuliis GN, Duchatel RJ, Jackson ER, Vitanza NA, Cain JE, Waszak SM, Dun MD. PMID: 34759345; PMCID: PMC8782719.
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PubMed Mentions:
10 Fields:
Translation:
HumansAnimals
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Mutational mechanisms shaping the coding and noncoding genome of germinal center derived B-cell lymphomas. Leukemia. 2021 07; 35(7):2002-2016.
Hübschmann D, Kleinheinz K, Wagener R, Bernhart SH, López C, Toprak UH, Sungalee S, Ishaque N, Kretzmer H, Kreuz M, Waszak SM, Paramasivam N, Ammerpohl O, Aukema SM, Beekman R, Bergmann AK, Bieg M, Binder H, Borkhardt A, Borst C, Brors B, Bruns P, Carrillo de Santa Pau E, Claviez A, Doose G, Haake A, Karsch D, Haas S, Hansmann ML, Hoell JI, Hovestadt V, Huang B, Hummel M, Jäger-Schmidt C, Kerssemakers JNA, Korbel JO, Kube D, Lawerenz C, Lenze D, Martens JHA, Ott G, Radlwimmer B, Reisinger E, Richter J, Rico D, Rosenstiel P, Rosenwald A, Schillhabel M, Stilgenbauer S, Stadler PF, Martín-Subero JI, Szczepanowski M, Warsow G, Weniger MA, Zapatka M, Valencia A, Stunnenberg HG, Lichter P, Möller P, Loeffler M, Eils R, Klapper W, Hoffmann S, Trümper L, ICGC MMML-Seq consortium, ICGC DE-Mining consortium, BLUEPRINT consortium, Küppers R, Schlesner M, Siebert R. PMID: 33953289; PMCID: PMC8257491.
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PubMed Mentions:
14 Fields:
Translation:
HumansCells
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Mechanisms of imipridones in targeting mitochondrial metabolism in cancer cells. Neuro Oncol. 2021 04 12; 23(4):542-556.
Bonner ER, Waszak SM, Grotzer MA, Mueller S, Nazarian J. PMID: 33336683; PMCID: PMC8041338.
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PubMed Mentions:
16 Fields:
Translation:
HumansCells
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Versatile workflow for cell type-resolved transcriptional and epigenetic profiles from cryopreserved human lung. JCI Insight. 2021 03 22; 6(6).
Llamazares-Prada M, Espinet E, Mijošek V, Schwartz U, Lutsik P, Tamas R, Richter M, Behrendt A, Pohl ST, Benz NP, Muley T, Warth A, Heußel CP, Winter H, Landry JJM, Herth FJ, Mertens TC, Karmouty-Quintana H, Koch I, Benes V, Korbel JO, Waszak SM, Trumpp A, Wyatt DM, Stahl HF, Plass C, Jurkowska RZ. PMID: 33630765; PMCID: PMC8026197.
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PubMed Mentions:
2 Fields:
Translation:
HumansCells
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Retrospective evaluation of whole exome and genome mutation calls in 746 cancer samples. Nat Commun. 2020 09 21; 11(1):4748.
Bailey MH, Meyerson WU, Dursi LJ, Wang LB, Dong G, Liang WW, Weerasinghe A, Li S, Li Y, Kelso S, MC3 Working Group, PCAWG novel somatic mutation calling methods working group, Saksena G, Ellrott K, Wendl MC, Wheeler DA, Getz G, Simpson JT, Gerstein MB, Ding L, PCAWG Consortium. PMID: 32958763; PMCID: PMC7505971.
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PubMed Mentions:
14 Fields:
Translation:
Humans
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Sex differences in oncogenic mutational processes. Nat Commun. 2020 08 28; 11(1):4330.
Li CH, Prokopec SD, Sun RX, Yousif F, Schmitz N, PCAWG Tumour Subtypes and Clinical Translation, Boutros PC, PCAWG Consortium. PMID: 32859912; PMCID: PMC7455744.
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PubMed Mentions:
22 Fields:
Translation:
Humans
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Chromatin accessibility landscape of pediatric T-lymphoblastic leukemia and human T-cell precursors. EMBO Mol Med. 2020 09 07; 12(9):e12104.
Erarslan-Uysal B, Kunz JB, Rausch T, Richter-Pechanska P, van Belzen IA, Frismantas V, Bornhauser B, Ordoñez-Rueada D, Paulsen M, Benes V, Stanulla M, Schrappe M, Cario G, Escherich G, Bakharevich K, Kirschner-Schwabe R, Eckert C, Loukanov T, Gorenflo M, Waszak SM, Bourquin JP, Muckenthaler MU, Korbel JO, Kulozik AE. PMID: 32755029; PMCID: PMC7507092.
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PubMed Mentions:
4 Fields:
Translation:
HumansCells
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Genome-wide Screens Implicate Loss of Cullin Ring Ligase 3 in Persistent Proliferation and Genome Instability in TP53-Deficient Cells. Cell Rep. 2020 04 07; 31(1):107465.
Drainas AP, Lambuta RA, Ivanova I, Serçin Ö, Sarropoulos I, Smith ML, Efthymiopoulos T, Raeder B, Stütz AM, Waszak SM, Mardin BR, Korbel JO. PMID: 32268084; PMCID: PMC7166082.
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PubMed Mentions:
11 Fields:
Translation:
HumansCells
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Germline Elongator mutations in Sonic Hedgehog medulloblastoma. Nature. 2020 04; 580(7803):396-401.
Waszak SM, Robinson GW, Gudenas BL, Smith KS, Forget A, Kojic M, Garcia-Lopez J, Hadley J, Hamilton KV, Indersie E, Buchhalter I, Kerssemakers J, Jäger N, Sharma T, Rausch T, Kool M, Sturm D, Jones DTW, Vasilyeva A, Tatevossian RG, Neale G, Lombard B, Loew D, Nakitandwe J, Rusch M, Bowers DC, Bendel A, Partap S, Chintagumpala M, Crawford J, Gottardo NG, Smith A, Dufour C, Rutkowski S, Eggen T, Wesenberg F, Kjaerheim K, Feychting M, Lannering B, Schüz J, Johansen C, Andersen TV, Röösli M, Kuehni CE, Grotzer M, Remke M, Puget S, Pajtler KW, Milde T, Witt O, Ryzhova M, Korshunov A, Orr BA, Ellison DW, Brugieres L, Lichter P, Nichols KE, Gajjar A, Wainwright BJ, Ayrault O, Korbel JO, Northcott PA, Pfister SM. PMID: 32296180; PMCID: PMC7430762.
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PubMed Mentions:
42 Fields:
Translation:
Humans
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Pathway and network analysis of more than 2500 whole cancer genomes. Nat Commun. 2020 02 05; 11(1):729.
Reyna MA, Haan D, Paczkowska M, Verbeke LPC, Vazquez M, Kahraman A, Pulido-Tamayo S, Barenboim J, Wadi L, Dhingra P, Shrestha R, Getz G, Lawrence MS, Pedersen JS, Rubin MA, Wheeler DA, Brunak S, Izarzugaza JMG, Khurana E, Marchal K, von Mering C, Sahinalp SC, Valencia A, PCAWG Drivers and Functional Interpretation Working Group, Reimand J, Stuart JM, Raphael BJ, PCAWG Consortium. PMID: 32024854; PMCID: PMC7002574.
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PubMed Mentions:
30 Fields:
Translation:
HumansCells
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A deep learning system accurately classifies primary and metastatic cancers using passenger mutation patterns. Nat Commun. 2020 02 05; 11(1):728.
Jiao W, Atwal G, Polak P, Karlic R, Cuppen E, PCAWG Tumor Subtypes and Clinical Translation Working Group, Danyi A, de Ridder J, van Herpen C, Lolkema MP, Steeghs N, Getz G, Morris Q, Stein LD, PCAWG Consortium. PMID: 32024849; PMCID: PMC7002586.
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PubMed Mentions:
50 Fields:
Translation:
Humans
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Inferring structural variant cancer cell fraction. Nat Commun. 2020 02 05; 11(1):730.
Cmero M, Yuan K, Ong CS, Schröder J, PCAWG Evolution and Heterogeneity Working Group, Corcoran NM, Papenfuss T, Hovens CM, Markowetz F, Macintyre G, PCAWG Consortium. PMID: 32024845; PMCID: PMC7002525.
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PubMed Mentions:
16 Fields:
Translation:
Humans
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Reconstructing evolutionary trajectories of mutation signature activities in cancer using TrackSig. Nat Commun. 2020 02 05; 11(1):731.
Rubanova Y, Shi R, Harrigan CF, Li R, Wintersinger J, Sahin N, Deshwar A, PCAWG Evolution and Heterogeneity Working Group, Morris Q, PCAWG Consortium. PMID: 32024834; PMCID: PMC7002414.
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PubMed Mentions:
19 Fields:
Translation:
Humans
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Genomic footprints of activated telomere maintenance mechanisms in cancer. Nat Commun. 2020 02 05; 11(1):733.
Sieverling L, Hong C, Koser SD, Ginsbach P, Kleinheinz K, Hutter B, Braun DM, Cortés-Ciriano I, Xi R, Kabbe R, Park PJ, Eils R, Schlesner M, PCAWG-Structural Variation Working Group, Brors B, Rippe K, Jones DTW, Feuerbach L, PCAWG Consortium. PMID: 32024817; PMCID: PMC7002710.
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PubMed Mentions:
47 Fields:
Translation:
HumansCells
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Genomic basis for RNA alterations in cancer. Nature. 2020 02; 578(7793):129-136.
PCAWG Transcriptome Core Group, Calabrese C, Davidson NR, Demircioglu D, Fonseca NA, He Y, Kahles A, Lehmann KV, Liu F, Shiraishi Y, Soulette CM, Urban L, Greger L, Li S, Liu D, Perry MD, Xiang Q, Zhang F, Zhang J, Bailey P, Erkek S, Hoadley KA, Hou Y, Huska MR, Kilpinen H, Korbel JO, Marin MG, Markowski J, Nandi T, Pan-Hammarström Q, Pedamallu CS, Siebert R, Stark SG, Su H, Tan P, Waszak SM, Yung C, Zhu S, Awadalla P, Creighton CJ, Meyerson M, Ouellette BFF, Wu K, Yang H, PCAWG Transcriptome Working Group, Brazma A, Brooks AN, Göke J, Rätsch G, Schwarz RF, Stegle O, Zhang Z, PCAWG Consortium. PMID: 32025019; PMCID: PMC7054216.
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PubMed Mentions:
127 Fields:
Translation:
HumansCells
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Cancer LncRNA Census reveals evidence for deep functional conservation of long noncoding RNAs in tumorigenesis. Commun Biol. 2020 02 05; 3(1):56.
Carlevaro-Fita J, Lanzós A, Feuerbach L, Hong C, Mas-Ponte D, Pedersen JS, PCAWG Drivers and Functional Interpretation Group, Johnson R, PCAWG Consortium. PMID: 32024996; PMCID: PMC7002399.
View in:
PubMed Mentions:
75 Translation:
HumansAnimals
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Pan-cancer analysis of whole genomes identifies driver rearrangements promoted by LINE-1 retrotransposition. Nat Genet. 2020 03; 52(3):306-319.
Rodriguez-Martin B, Alvarez EG, Baez-Ortega A, Zamora J, Supek F, Demeulemeester J, Santamarina M, Ju YS, Temes J, Garcia-Souto D, Detering H, Li Y, Rodriguez-Castro J, Dueso-Barroso A, Bruzos AL, Dentro SC, Blanco MG, Contino G, Ardeljan D, Tojo M, Roberts ND, Zumalave S, Edwards PA, Weischenfeldt J, Puiggròs M, Chong Z, Chen K, Lee EA, Wala JA, Raine KM, Butler A, Waszak SM, Navarro FCP, Schumacher SE, Monlong J, Maura F, Bolli N, Bourque G, Gerstein M, Park PJ, Wedge DC, Beroukhim R, Torrents D, Korbel JO, Martincorena I, Fitzgerald RC, Van Loo P, Kazazian HH, Burns KH, PCAWG Structural Variation Working Group, Campbell PJ, Tubio JMC, PCAWG Consortium. PMID: 32024998; PMCID: PMC7058536.
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PubMed Mentions:
105 Fields:
Translation:
HumansCells
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Patterns of somatic structural variation in human cancer genomes. Nature. 2020 02; 578(7793):112-121.
Li Y, Roberts ND, Wala JA, Shapira O, Schumacher SE, Kumar K, Khurana E, Waszak S, Korbel JO, Haber JE, Imielinski M, PCAWG Structural Variation Working Group, Weischenfeldt J, Beroukhim R, Campbell PJ, PCAWG Consortium. PMID: 32025012; PMCID: PMC7025897.
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PubMed Mentions:
227 Fields:
Translation:
Humans
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Analyses of non-coding somatic drivers in 2,658 cancer whole genomes. Nature. 2020 02; 578(7793):102-111.
Rheinbay E, Nielsen MM, Abascal F, Wala JA, Shapira O, Tiao G, Hornshøj H, Hess JM, Juul RI, Lin Z, Feuerbach L, Sabarinathan R, Madsen T, Kim J, Mularoni L, Shuai S, Lanzós A, Herrmann C, Maruvka YE, Shen C, Amin SB, Bandopadhayay P, Bertl J, Boroevich KA, Busanovich J, Carlevaro-Fita J, Chakravarty D, Chan CWY, Craft D, Dhingra P, Diamanti K, Fonseca NA, Gonzalez-Perez A, Guo Q, Hamilton MP, Haradhvala NJ, Hong C, Isaev K, Johnson TA, Juul M, Kahles A, Kahraman A, Kim Y, Komorowski J, Kumar K, Kumar S, Lee D, Lehmann KV, Li Y, Liu EM, Lochovsky L, Park K, Pich O, Roberts ND, Saksena G, Schumacher SE, Sidiropoulos N, Sieverling L, Sinnott-Armstrong N, Stewart C, Tamborero D, Tubio JMC, Umer HM, Uusküla-Reimand L, Wadelius C, Wadi L, Yao X, Zhang CZ, Zhang J, Haber JE, Hobolth A, Imielinski M, Kellis M, Lawrence MS, von Mering C, Nakagawa H, Raphael BJ, Rubin MA, Sander C, Stein LD, Stuart JM, Tsunoda T, Wheeler DA, Johnson R, Reimand J, Gerstein M, Khurana E, Campbell PJ, López-Bigas N, PCAWG Drivers and Functional Interpretation Working Group, PCAWG Structural Variation Working Group, Weischenfeldt J, Beroukhim R, Martincorena I, Pedersen JS, Getz G, PCAWG Consortium. PMID: 32025015; PMCID: PMC7054214.
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PubMed Mentions:
173 Fields:
Translation:
Humans
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Pan-cancer analysis of whole genomes. Nature. 2020 02; 578(7793):82-93.
ICGC/TCGA Pan-Cancer Analysis of Whole Genomes Consortium. PMID: 32025007; PMCID: PMC7025898.
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PubMed Mentions:
619 Fields:
Translation:
HumansCells
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Integrative pathway enrichment analysis of multivariate omics data. Nat Commun. 2020 02 05; 11(1):735.
Paczkowska M, Barenboim J, Sintupisut N, Fox NS, Zhu H, Abd-Rabbo D, Mee MW, Boutros PC, PCAWG Drivers and Functional Interpretation Working Group, Reimand J, PCAWG Consortium. PMID: 32024846; PMCID: PMC7002665.
View in:
PubMed Mentions:
45 Fields:
Translation:
HumansCells
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Butler enables rapid cloud-based analysis of thousands of human genomes. Nat Biotechnol. 2020 03; 38(3):288-292.
Yakneen S, Waszak SM, PCAWG Technical Working Group, Gertz M, Korbel JO, PCAWG Consortium. PMID: 32024987; PMCID: PMC7062635.
View in:
PubMed Mentions:
4 Fields:
Translation:
Humans
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High-coverage whole-genome analysis of 1220 cancers reveals hundreds of genes deregulated by rearrangement-mediated cis-regulatory alterations. Nat Commun. 2020 02 05; 11(1):736.
Zhang Y, Chen F, Fonseca NA, He Y, Fujita M, Nakagawa H, Zhang Z, Brazma A, PCAWG Transcriptome Working Group, PCAWG Structural Variation Working Group, Creighton CJ, PCAWG Consortium. PMID: 32024823; PMCID: PMC7002524.
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PubMed Mentions:
28 Fields:
Translation:
HumansCells
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Combined burden and functional impact tests for cancer driver discovery using DriverPower. Nat Commun. 2020 02 05; 11(1):734.
Shuai S, PCAWG Drivers and Functional Interpretation Working Group, Gallinger S, Stein L, PCAWG Consortium. PMID: 32024818; PMCID: PMC7002750.
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PubMed Mentions:
20 Fields:
Translation:
Humans
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Divergent mutational processes distinguish hypoxic and normoxic tumours. Nat Commun. 2020 02 05; 11(1):737.
Bhandari V, Li CH, Bristow RG, Boutros PC, PCAWG Consortium. PMID: 32024819; PMCID: PMC7002770.
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PubMed Mentions:
42 Fields:
Translation:
Humans
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The molecular landscape of ETMR at diagnosis and relapse. Nature. 2019 12; 576(7786):274-280.
Lambo S, Gröbner SN, Rausch T, Waszak SM, Schmidt C, Gorthi A, Romero JC, Mauermann M, Brabetz S, Krausert S, Buchhalter I, Koster J, Zwijnenburg DA, Sill M, Hübner JM, Mack N, Schwalm B, Ryzhova M, Hovestadt V, Papillon-Cavanagh S, Chan JA, Landgraf P, Ho B, Milde T, Witt O, Ecker J, Sahm F, Sumerauer D, Ellison DW, Orr BA, Darabi A, Haberler C, Figarella-Branger D, Wesseling P, Schittenhelm J, Remke M, Taylor MD, Gil-da-Costa MJ, Lastowska M, Grajkowska W, Hasselblatt M, Hauser P, Pietsch T, Uro-Coste E, Bourdeaut F, Masliah-Planchon J, Rigau V, Alexandrescu S, Wolf S, Li XN, Schüller U, Snuderl M, Karajannis MA, Giangaspero F, Jabado N, von Deimling A, Jones DTW, Korbel JO, von Hoff K, Lichter P, Huang A, Bishop AJR, Pfister SM, Korshunov A, Kool M. PMID: 31802000; PMCID: PMC6908757.
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PubMed Mentions:
34 Fields:
Translation:
Humans
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Germline GPR161 Mutations Predispose to Pediatric Medulloblastoma. J Clin Oncol. 2020 01 01; 38(1):43-50.
Begemann M, Waszak SM, Robinson GW, Jäger N, Sharma T, Knopp C, Kraft F, Moser O, Mynarek M, Guerrini-Rousseau L, Brugieres L, Varlet P, Pietsch T, Bowers DC, Chintagumpala M, Sahm F, Korbel JO, Rutkowski S, Eggermann T, Gajjar A, Northcott P, Elbracht M, Pfister SM, Kontny U, Kurth I. PMID: 31609649; PMCID: PMC6943973.
View in:
PubMed Mentions:
22 Fields:
Translation:
HumansCells
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NCoR1: Putting the Brakes on the Dendritic Cell Immune Tolerance. iScience. 2019 Sep 27; 19:996-1011.
Ahad A, Stevanin M, Smita S, Mishra GP, Gupta D, Waszak S, Sarkar UA, Basak S, Gupta B, Acha-Orbea H, Raghav SK. PMID: 31522122; PMCID: PMC6744395.
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PubMed Mentions:
8
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Genomic and transcriptomic changes complement each other in the pathogenesis of sporadic Burkitt lymphoma. Nat Commun. 2019 03 29; 10(1):1459.
López C, Kleinheinz K, Aukema SM, Rohde M, Bernhart SH, Hübschmann D, Wagener R, Toprak UH, Raimondi F, Kreuz M, Waszak SM, Huang Z, Sieverling L, Paramasivam N, Seufert J, Sungalee S, Russell RB, Bausinger J, Kretzmer H, Ammerpohl O, Bergmann AK, Binder H, Borkhardt A, Brors B, Claviez A, Doose G, Feuerbach L, Haake A, Hansmann ML, Hoell J, Hummel M, Korbel JO, Lawerenz C, Lenze D, Radlwimmer B, Richter J, Rosenstiel P, Rosenwald A, Schilhabel MB, Stein H, Stilgenbauer S, Stadler PF, Szczepanowski M, Weniger MA, Zapatka M, Eils R, Lichter P, Loeffler M, Möller P, Trümper L, Klapper W, ICGC MMML-Seq Consortium, Hoffmann S, Küppers R, Burkhardt B, Schlesner M, Siebert R. PMID: 30926794; PMCID: PMC6440956.
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PubMed Mentions:
45 Fields:
Translation:
HumansCells
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Antibiotics-induced monodominance of a novel gut bacterial order. Gut. 2019 10; 68(10):1781-1790.
Hildebrand F, Moitinho-Silva L, Blasche S, Jahn MT, Gossmann TI, Huerta-Cepas J, Hercog R, Luetge M, Bahram M, Pryszlak A, Alves RJ, Waszak SM, Zhu A, Ye L, Costea PI, Aalvink S, Belzer C, Forslund SK, Sunagawa S, Hentschel U, Merten C, Patil KR, Benes V, Bork P. PMID: 30658995; PMCID: PMC6839795.
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PubMed Mentions:
25 Fields:
Translation:
HumansCells
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Molecular Evolution of Early-Onset Prostate Cancer Identifies Molecular Risk Markers and Clinical Trajectories. Cancer Cell. 2018 12 10; 34(6):996-1011.e8.
Gerhauser C, Favero F, Risch T, Simon R, Feuerbach L, Assenov Y, Heckmann D, Sidiropoulos N, Waszak SM, Hübschmann D, Urbanucci A, Girma EG, Kuryshev V, Klimczak LJ, Saini N, Stütz AM, Weichenhan D, Böttcher LM, Toth R, Hendriksen JD, Koop C, Lutsik P, Matzk S, Warnatz HJ, Amstislavskiy V, Feuerstein C, Raeder B, Bogatyrova O, Schmitz EM, Hube-Magg C, Kluth M, Huland H, Graefen M, Lawerenz C, Henry GH, Yamaguchi TN, Malewska A, Meiners J, Schilling D, Reisinger E, Eils R, Schlesner M, Strand DW, Bristow RG, Boutros PC, von Kalle C, Gordenin D, Sültmann H, Brors B, Sauter G, Plass C, Yaspo ML, Korbel JO, Schlomm T, Weischenfeldt J. PMID: 30537516; PMCID: PMC7444093.
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PubMed Mentions:
91 Fields:
Translation:
HumansCells
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PDX models recapitulate the genetic and epigenetic landscape of pediatric T-cell leukemia. EMBO Mol Med. 2018 12; 10(12).
Richter-Pechanska P, Kunz JB, Bornhauser B, von Knebel Doeberitz C, Rausch T, Erarslan-Uysal B, Assenov Y, Frismantas V, Marovca B, Waszak SM, Zimmermann M, Seemann J, Happich M, Stanulla M, Schrappe M, Cario G, Escherich G, Bakharevich K, Kirschner-Schwabe R, Eckert C, Muckenthaler MU, Korbel JO, Bourquin JP, Kulozik AE. PMID: 30389682; PMCID: PMC6284381.
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PubMed Mentions:
17 Fields:
Translation:
HumansAnimals
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Risk-adapted therapy for young children with medulloblastoma (SJYC07): therapeutic and molecular outcomes from a multicentre, phase 2 trial. Lancet Oncol. 2018 06; 19(6):768-784.
Robinson GW, Rudneva VA, Buchhalter I, Billups CA, Waszak SM, Smith KS, Bowers DC, Bendel A, Fisher PG, Partap S, Crawford JR, Hassall T, Indelicato DJ, Boop F, Klimo P, Sabin ND, Patay Z, Merchant TE, Stewart CF, Orr BA, Korbel JO, Jones DTW, Sharma T, Lichter P, Kool M, Korshunov A, Pfister SM, Gilbertson RJ, Sanders RP, Onar-Thomas A, Ellison DW, Gajjar A, Northcott PA. PMID: 29778738; PMCID: PMC6078206.
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PubMed Mentions:
75 Fields:
Translation:
HumansCellsCTClinical Trials
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Spectrum and prevalence of genetic predisposition in medulloblastoma: a retrospective genetic study and prospective validation in a clinical trial cohort. Lancet Oncol. 2018 06; 19(6):785-798.
Waszak SM, Northcott PA, Buchhalter I, Robinson GW, Sutter C, Groebner S, Grund KB, Brugières L, Jones DTW, Pajtler KW, Morrissy AS, Kool M, Sturm D, Chavez L, Ernst A, Brabetz S, Hain M, Zichner T, Segura-Wang M, Weischenfeldt J, Rausch T, Mardin BR, Zhou X, Baciu C, Lawerenz C, Chan JA, Varlet P, Guerrini-Rousseau L, Fults DW, Grajkowska W, Hauser P, Jabado N, Ra YS, Zitterbart K, Shringarpure SS, De La Vega FM, Bustamante CD, Ng HK, Perry A, MacDonald TJ, Hernáiz Driever P, Bendel AE, Bowers DC, McCowage G, Chintagumpala MM, Cohn R, Hassall T, Fleischhack G, Eggen T, Wesenberg F, Feychting M, Lannering B, Schüz J, Johansen C, Andersen TV, Röösli M, Kuehni CE, Grotzer M, Kjaerheim K, Monoranu CM, Archer TC, Duke E, Pomeroy SL, Shelagh R, Frank S, Sumerauer D, Scheurlen W, Ryzhova MV, Milde T, Kratz CP, Samuel D, Zhang J, Solomon DA, Marra M, Eils R, Bartram CR, von Hoff K, Rutkowski S, Ramaswamy V, Gilbertson RJ, Korshunov A, Taylor MD, Lichter P, Malkin D, Gajjar A, Korbel JO, Pfister SM. PMID: 29753700; PMCID: PMC5984248.
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PubMed Mentions:
126 Fields:
Translation:
HumansCells
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The landscape of genomic alterations across childhood cancers. Nature. 2018 03 15; 555(7696):321-327.
Gröbner SN, Worst BC, Weischenfeldt J, Buchhalter I, Kleinheinz K, Rudneva VA, Johann PD, Balasubramanian GP, Segura-Wang M, Brabetz S, Bender S, Hutter B, Sturm D, Pfaff E, Hübschmann D, Zipprich G, Heinold M, Eils J, Lawerenz C, Erkek S, Lambo S, Waszak S, Blattmann C, Borkhardt A, Kuhlen M, Eggert A, Fulda S, Gessler M, Wegert J, Kappler R, Baumhoer D, Burdach S, Kirschner-Schwabe R, Kontny U, Kulozik AE, Lohmann D, Hettmer S, Eckert C, Bielack S, Nathrath M, Niemeyer C, Richter GH, Schulte J, Siebert R, Westermann F, Molenaar JJ, Vassal G, Witt H, ICGC PedBrain-Seq Project, ICGC MMML-Seq Project, Burkhardt B, Kratz CP, Witt O, van Tilburg CM, Kramm CM, Fleischhack G, Dirksen U, Rutkowski S, Frühwald M, von Hoff K, Wolf S, Klingebiel T, Koscielniak E, Landgraf P, Koster J, Resnick AC, Zhang J, Liu Y, Zhou X, Waanders AJ, Zwijnenburg DA, Raman P, Brors B, Weber UD, Northcott PA, Pajtler KW, Kool M, Piro RM, Korbel JO, Schlesner M, Eils R, Jones DTW, Lichter P, Chavez L, Zapatka M, Pfister SM. PMID: 29489754.
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PubMed Mentions:
478 Fields:
Translation:
Humans
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The whole-genome panorama of cancer drivers. bioRxiv. 2017; 190330.
Sabarinathan R, Pich O, Martincorena I, Rubio-Perez C, Juul M, Wala J, Schumacher S, Shapira O, Sidiropoulos N, Waszak SM, Tamborero D, Mularoni L, Rheinbay E, Hornshøj H, Deu-Pons J, Muiños F, Bertl J, Guo Q, Creighton CJ, Weischenfeldt J, Korbel JO, Getz G, Campbell PJ, Pedersen JS, Beroukhim R, Gonzalez-Perez A, López-Bigas N, PCAWG Drivers and Functional Interpretation Group, ICGC/TCGA Pan-Cancer Analysis of Whole Genomes Network. View Publication.
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The whole-genome landscape of medulloblastoma subtypes. Nature. 2017 07 19; 547(7663):311-317.
Northcott PA, Buchhalter I, Morrissy AS, Hovestadt V, Weischenfeldt J, Ehrenberger T, Gröbner S, Segura-Wang M, Zichner T, Rudneva VA, Warnatz HJ, Sidiropoulos N, Phillips AH, Schumacher S, Kleinheinz K, Waszak SM, Erkek S, Jones DTW, Worst BC, Kool M, Zapatka M, Jäger N, Chavez L, Hutter B, Bieg M, Paramasivam N, Heinold M, Gu Z, Ishaque N, Jäger-Schmidt C, Imbusch CD, Jugold A, Hübschmann D, Risch T, Amstislavskiy V, Gonzalez FGR, Weber UD, Wolf S, Robinson GW, Zhou X, Wu G, Finkelstein D, Liu Y, Cavalli FMG, Luu B, Ramaswamy V, Wu X, Koster J, Ryzhova M, Cho YJ, Pomeroy SL, Herold-Mende C, Schuhmann M, Ebinger M, Liau LM, Mora J, McLendon RE, Jabado N, Kumabe T, Chuah E, Ma Y, Moore RA, Mungall AJ, Mungall KL, Thiessen N, Tse K, Wong T, Jones SJM, Witt O, Milde T, Von Deimling A, Capper D, Korshunov A, Yaspo ML, Kriwacki R, Gajjar A, Zhang J, Beroukhim R, Fraenkel E, Korbel JO, Brors B, Schlesner M, Eils R, Marra MA, Pfister SM, Taylor MD, Lichter P. PMID: 28726821; PMCID: PMC5905700.
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PubMed Mentions:
415 Fields:
Translation:
HumansCells
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Pan-cancer analysis of somatic copy-number alterations implicates IRS4 and IGF2 in enhancer hijacking. Nat Genet. 2017 01; 49(1):65-74.
Weischenfeldt J, Dubash T, Drainas AP, Mardin BR, Chen Y, Stütz AM, Waszak SM, Bosco G, Halvorsen AR, Raeder B, Efthymiopoulos T, Erkek S, Siegl C, Brenner H, Brustugun OT, Dieter SM, Northcott PA, Petersen I, Pfister SM, Schneider M, Solberg SK, Thunissen E, Weichert W, Zichner T, Thomas R, Peifer M, Helland A, Ball CR, Jechlinger M, Sotillo R, Glimm H, Korbel JO. PMID: 27869826; PMCID: PMC5791882.
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PubMed Mentions:
161 Fields:
Translation:
HumansCells
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Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes. Mol Psychiatry. 2017 06; 22(6):836-849.
Loviglio MN, Leleu M, Männik K, Passeggeri M, Giannuzzi G, van der Werf I, Waszak SM, Zazhytska M, Roberts-Caldeira I, Gheldof N, Migliavacca E, Alfaiz AA, Hippolyte L, Maillard AM, 2p15 Consortium, 16p11.2 Consortium, Van Dijck A, Kooy RF, Sanlaville D, Rosenfeld JA, Shaffer LG, Andrieux J, Marshall C, Scherer SW, Shen Y, Gusella JF, Thorsteinsdottir U, Thorleifsson G, Dermitzakis ET, Deplancke B, Beckmann JS, Rougemont J, Jacquemont S, Reymond A. PMID: 27240531; PMCID: PMC5508252.
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PubMed Mentions:
34 Fields:
Translation:
HumansCells
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No correlation between NF1 mutation position and risk of optic pathway glioma in 77 unrelated NF1 patients. Hum Genet. 2016 May; 135(5):469-475.
Hutter S, Piro RM, Waszak SM, Kehrer-Sawatzki H, Friedrich RE, Lassaletta A, Witt O, Korbel JO, Lichter P, Schuhmann MU, Pfister SM, Tabori U, Mautner VF, Jones DTW. PMID: 26969325.
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PubMed Mentions:
18 Fields:
Translation:
Humans
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Active medulloblastoma enhancers reveal subgroup-specific cellular origins. Nature. 2016 Feb 04; 530(7588):57-62.
Lin CY, Erkek S, Tong Y, Yin L, Federation AJ, Zapatka M, Haldipur P, Kawauchi D, Risch T, Warnatz HJ, Worst BC, Ju B, Orr BA, Zeid R, Polaski DR, Segura-Wang M, Waszak SM, Jones DT, Kool M, Hovestadt V, Buchhalter I, Sieber L, Johann P, Chavez L, Gröschel S, Ryzhova M, Korshunov A, Chen W, Chizhikov VV, Millen KJ, Amstislavskiy V, Lehrach H, Yaspo ML, Eils R, Lichter P, Korbel JO, Pfister SM, Bradner JE, Northcott PA. PMID: 26814967; PMCID: PMC5168934.
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PubMed Mentions:
189 Fields:
Translation:
HumansAnimalsCells
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A cell-based model system links chromothripsis with hyperploidy. Mol Syst Biol. 2015 Sep 28; 11(9):828.
Mardin BR, Drainas AP, Waszak SM, Weischenfeldt J, Isokane M, Stütz AM, Raeder B, Efthymiopoulos T, Buccitelli C, Segura-Wang M, Northcott P, Pfister SM, Lichter P, Ellenberg J, Korbel JO. PMID: 26415501; PMCID: PMC4592670.
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PubMed Mentions:
53 Fields:
Translation:
HumansCells
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Population Variation and Genetic Control of Modular Chromatin Architecture in Humans. Cell. 2015 Aug 27; 162(5):1039-50.
Waszak SM, Delaneau O, Gschwind AR, Kilpinen H, Raghav SK, Witwicki RM, Orioli A, Wiederkehr M, Panousis NI, Yurovsky A, Romano-Palumbo L, Planchon A, Bielser D, Padioleau I, Udin G, Thurnheer S, Hacker D, Hernandez N, Reymond A, Deplancke B, Dermitzakis ET. PMID: 26300124.
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PubMed Mentions:
115 Fields:
Translation:
HumansCells
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A dual program for translation regulation in cellular proliferation and differentiation. Cell. 2014 Sep 11; 158(6):1281-1292.
Gingold H, Tehler D, Christoffersen NR, Nielsen MM, Asmar F, Kooistra SM, Christophersen NS, Christensen LL, Borre M, Sørensen KD, Andersen LD, Andersen CL, Hulleman E, Wurdinger T, Ralfkiær E, Helin K, Grønbæk K, Ørntoft T, Waszak SM, Dahan O, Pedersen JS, Lund AH, Pilpel Y. PMID: 25215487.
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PubMed Mentions:
232 Fields:
Translation:
HumansCells
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Identification of the transcription factor ZEB1 as a central component of the adipogenic gene regulatory network. Elife. 2014 Aug 27; 3:e03346.
Gubelmann C, Schwalie PC, Raghav SK, Röder E, Delessa T, Kiehlmann E, Waszak SM, Corsinotti A, Udin G, Holcombe W, Rudofsky G, Trono D, Wolfrum C, Deplancke B. PMID: 25163748; PMCID: PMC4359378.
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PubMed Mentions:
48 Fields:
Translation:
HumansAnimalsCells
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A common microdeletion affecting a hippocampus- and amygdala-specific isoform of tryptophan hydroxylase 2 is not associated with affective disorders. Bipolar Disord. 2014 Nov; 16(7):764-8.
Hammer C, Degenhardt F, Priebe L, Stütz AM, Heilmann S, Waszak SM, Schlattl A, Mangold E, Hoffmann P, Nöthen MM, Rietschel M, Rappold G, Korbel J, Cichon S, Niesler B, MooDS Consortium. PMID: 24754353.
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PubMed Mentions:
1 Fields:
Translation:
Humans
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Rounding up natural gene expression variation during development. Dev Cell. 2013 Dec 23; 27(6):601-3.
Waszak SM, Deplancke B. PMID: 24369832.
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PubMed Mentions: Fields:
Translation:
Animals
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Identification and removal of low-complexity sites in allele-specific analysis of ChIP-seq data. Bioinformatics. 2014 Jan 15; 30(2):165-71.
Waszak SM, Kilpinen H, Gschwind AR, Orioli A, Raghav SK, Witwicki RM, Migliavacca E, Yurovsky A, Lappalainen T, Hernandez N, Reymond A, Dermitzakis ET, Deplancke B. PMID: 24255646.
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PubMed Mentions:
4 Fields:
Translation:
HumansCells
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Coordinated effects of sequence variation on DNA binding, chromatin structure, and transcription. Science. 2013 Nov 08; 342(6159):744-7.
Kilpinen H, Waszak SM, Gschwind AR, Raghav SK, Witwicki RM, Orioli A, Migliavacca E, Wiederkehr M, Gutierrez-Arcelus M, Panousis NI, Yurovsky A, Lappalainen T, Romano-Palumbo L, Planchon A, Bielser D, Bryois J, Padioleau I, Udin G, Thurnheer S, Hacker D, Core LJ, Lis JT, Hernandez N, Reymond A, Deplancke B, Dermitzakis ET. PMID: 24136355; PMCID: PMC5502466.
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PubMed Mentions:
207 Fields:
Translation:
HumansCells
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A yeast one-hybrid and microfluidics-based pipeline to map mammalian gene regulatory networks. Mol Syst Biol. 2013 Aug 06; 9:682.
Gubelmann C, Waszak SM, Isakova A, Holcombe W, Hens K, Iagovitina A, Feuz JD, Raghav SK, Simicevic J, Deplancke B. PMID: 23917988; PMCID: PMC3779800.
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PubMed Mentions:
20 Fields:
Translation:
AnimalsCells
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Genomic variation and its impact on gene expression in Drosophila melanogaster. PLoS Genet. 2012; 8(11):e1003055.
Massouras A, Waszak SM, Albarca-Aguilera M, Hens K, Holcombe W, Ayroles JF, Dermitzakis ET, Stone EA, Jensen JD, Mackay TF, Deplancke B. PMID: 23189034; PMCID: PMC3499359.
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PubMed Mentions:
70 Fields:
Translation:
Animals
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Personal receptor repertoires: olfaction as a model. BMC Genomics. 2012 Aug 21; 13:414.
Olender T, Waszak SM, Viavant M, Khen M, Ben-Asher E, Reyes A, Nativ N, Wysocki CJ, Ge D, Lancet D. PMID: 22908908; PMCID: PMC3462693.
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PubMed Mentions:
31 Fields:
Translation:
Humans
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Integrative genomics identifies the corepressor SMRT as a gatekeeper of adipogenesis through the transcription factors C/EBPβ and KAISO. Mol Cell. 2012 May 11; 46(3):335-50.
Raghav SK, Waszak SM, Krier I, Gubelmann C, Isakova A, Mikkelsen TS, Deplancke B. PMID: 22521691.
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PubMed Mentions:
45 Fields:
Translation:
AnimalsCells
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Relating CNVs to transcriptome data at fine resolution: assessment of the effect of variant size, type, and overlap with functional regions. Genome Res. 2011 Dec; 21(12):2004-13.
Schlattl A, Anders S, Waszak SM, Huber W, Korbel JO. PMID: 21862627; PMCID: PMC3227091.
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PubMed Mentions:
58 Fields:
Translation:
HumansCells
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Systematic inference of copy-number genotypes from personal genome sequencing data reveals extensive olfactory receptor gene content diversity. PLoS Comput Biol. 2010 Nov 11; 6(11):e1000988.
Waszak SM, Hasin Y, Zichner T, Olender T, Keydar I, Khen M, Stütz AM, Schlattl A, Lancet D, Korbel JO. PMID: 21085617; PMCID: PMC2978733.
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PubMed Mentions:
38 Fields:
Translation:
Humans
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Variation in transcription factor binding among humans. Science. 2010 Apr 09; 328(5975):232-5.
Kasowski M, Grubert F, Heffelfinger C, Hariharan M, Asabere A, Waszak SM, Habegger L, Rozowsky J, Shi M, Urban AE, Hong MY, Karczewski KJ, Huber W, Weissman SM, Gerstein MB, Korbel JO, Snyder M. PMID: 20299548; PMCID: PMC2938768.
View in:
PubMed Mentions:
329 Fields:
Translation:
HumansAnimalsCells